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Article

Novel MAF mutation in a family with congenital cataract-microcornea syndrome.

Molecular vision - 18 Oct 2007

Hansen Lars, Eiberg Hans, Rosenberg Thomas

Abstract excerpt

PURPOSE: To further unravel the molecular genetic background for the association congenital cataract-microcornea (CCMC). METHODS: DNA variation was pointed out by direct DNA sequencing of 13 lens-expressed cataract genes from three CCMC families and one isolated case. The mutation screening included seven crystalline genes, two gap junction protein genes, and four lens expressed regulatory genes. RESULTS: A DNA...

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Source

Identifiers

PMID: 17982426

Genes

MAF

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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